A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16991510



Internal ID61749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4983711..5730820hg38UCSC Ensembl
chr7:5023342..5770451hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38747110
hg19747110
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562206
Supporting Variants
Samples
Known GenesACTB, FBXL18, FSCN1, MIR589, MIR6874, RBAK, RBAKDN, RBAK-RBAKDN, RNF216, RNF216-IT1, RNF216P1, SLC29A4, TNRC18, WIPI2, ZNF890P
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16991510
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.203091


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